Canonical Allele Identifier: CA5858875

Gene: TPP1

Linked Data

• dbSNP Id: rs771731475
• ExAC: 11:6638178 G / A
• gnomAD v2: 11-6638178-G-A
• gnomAD v3: 11-6616947-G-A
• gnomAD v4: 11-6616947-G-A
• MyVariant Identifiers: chr11:g.6638178G>A (hg19) ; chr11:g.6616947G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616947G>A , CM000673.2:g.6616947G>A	GRCh38
NC_000011.9:g.6638178G>A , CM000673.1:g.6638178G>A	GRCh37
NC_000011.8:g.6594754G>A	NCBI36
NG_008653.1:g.7515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.573+28C>T	ENSP00000507321.1:n.573+28C>T
ENST00000299427.12:c.687+28C>T MANE Select	ENSP00000299427.6:n.687+28C>T
ENST00000436873.7:c.312+354C>T
ENST00000524788.2:n.1846+28C>T
ENST00000524903.2:n.1962+28C>T
ENST00000528807.2:n.343+28C>T
ENST00000530040.2:n.479+412C>T
ENST00000533371.6:c.-43+28C>T	ENSP00000437066.1:n.-43+28C>T
ENST00000642892.1:c.-43+28C>T	ENSP00000494165.1:n.-43+28C>T
ENST00000643439.1:c.*427+28C>T	ENSP00000495849.1:n.*427+28C>T
ENST00000643479.1:n.716+28C>T
ENST00000643516.1:c.395+354C>T
ENST00000644151.1:n.2126+28C>T
ENST00000644218.1:c.687+28C>T	ENSP00000493574.1:n.687+28C>T
ENST00000644683.1:c.*140+28C>T	ENSP00000494085.1:n.*140+28C>T
ENST00000644810.1:c.408+28C>T	ENSP00000495895.1:n.408+28C>T
ENST00000644831.1:n.863+28C>T
ENST00000644933.1:c.-43+28C>T	ENSP00000496133.1:n.-43+28C>T
ENST00000645020.1:n.1890C>T
ENST00000645285.1:c.-43+28C>T	ENSP00000495058.1:n.-43+28C>T
ENST00000645331.1:n.1053+28C>T
ENST00000645620.1:c.-43+28C>T	ENSP00000493657.1:n.-43+28C>T
ENST00000646777.1:n.863+28C>T
ENST00000647016.1:n.1167+28C>T
ENST00000647152.1:c.-43+28C>T	ENSP00000495893.1:n.-43+28C>T
ENST00000647209.1:c.*556+28C>T	ENSP00000495558.1:n.*556+28C>T
ENST00000647346.1:n.1707+28C>T
ENST00000299427.10:c.687+28C>T	ENSP00000299427.6:n.687+28C>T
ENST00000436873.6:c.450+412C>T	ENSP00000398136.2:n.450+412C>T
ENST00000524788.1:n.387+28C>T
ENST00000528807.1:n.237+28C>T
ENST00000533371.5:c.-43+28C>T	ENSP00000437066.1:n.-43+28C>T
ENST00000611494.4:c.687+28C>T	ENSP00000484546.1:n.687+28C>T
NM_000391.3:c.687+28C>T	NP_000382.3:n.687+28C>T
NM_000391.4:c.687+28C>T MANE Select	NP_000382.3:n.687+28C>T